The Budd-Chiari syndrome is a heterogeneous group of disorders characterized by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava with the right atrium. We present two cases of Budd- Chiari syndrome with severe ascites associated with polycythemia vera in first case and protein C deficiency in the second, in both cases tran...

A female infant with peripheral pulmonary artery stenosis, growth retardation, and developmental delay was noticed to have facial features consistent with a diagnosis of Williams syndrome. Chromosome analysis revealed a deletion of the terminal portion of the long arm of chromosome 4 (4q33----qter). This is the seventh reported case of this chromosome disorder. It is possible that this chromoso...

46,XX gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism. Mullerian agenesis or Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in a woman with normal development of sec...

Systemic autoimmune diseases (SAD) are a heterogeneous group of immunologically mediated inflammatory disorders including multiorgan involvement. As expected in a multisystem disease, the entire pulmonary system is vulnerable to injury. Any of its compartments may be independently or simultaneously affected. It is difficult to assess the true prevalence of lung disease in cases of SAD. In this ...

The Nova onconeural antigens are implicated in the pathogenesis of paraneoplastic opsoclonus-myoclonus-ataxia (POMA). The Nova antigens are neuron-specific RNA-binding proteins harboring three repeats of the K-homology (KH) motif; they have been implicated in the regulation of alternative splicing of a host of genes involved in inhibitory synaptic transmission. Although the third Nova KH domain...

The neutrophilic dermatoses are a group of disorders characterized by skin lesions for which histological examination reveals intense epidermal and/or dermal inflammatory infiltrates composed primarily of neutrophils without evidence of infection. The myelodysplastic syndromes consist of a heterogeneous group of malignant hematopoietic stem cell disorders characterized by dysplastic and inadequ...

The RNA-binding protein hnRNP Q has been implicated in neuronal mRNA metabolism. Here, we show that knockdown of hnRNP Q increased neurite complexity in cultured rat cortical neurons and induced filopodium formation in mouse neuroblastoma cells. Reexpression of hnRNP Q1 in hnRNP Q-depleted cells abrogated the morphological changes of neurites, indicating a specific role for hnRNP Q1 in neuronal...

Budd-Chiari syndrome refers to hepatic pathology secondary to diminished venous outflow, most commonly associated with venothrombotic disease. Clinically, patients with Budd-Chiari present with hepatomegaly, ascites, abdominal distension, and pain. On imaging, Budd-Chiari syndrome is hallmarked by occluded IVC and or hepatic veins, caudate lobe enlargement, heterogeneous liver enhancement, intr...

X-linked parkinsonism encompasses rare heterogeneous disorders mainly inherited as a recessive trait, therefore being more prevalent in males. Recent developments have revealed complex underlying panorama, including spectrum of which is variably associated with additional neurological and non-neurological signs. In particular, childhood-onset encephalopathy epilepsy and/or cognitive disability ...